rs267608150

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CCCCCT;CCCCCT)	0	common in clinvar
(CCCCCT;TGTGTGTGAAG)	6	Lynch syndrome, pathogenic mutation

Make rs267608150(TGTGTGTGAAG;TGTGTGTGAAG)

Reference

GRCh38 38.1/141

Chromosome

7

Position

5997388

Gene

PMS2

is a	snp
is	mentioned by
dbSNP	rs267608150
dbSNP (classic)	rs267608150
ClinGen	rs267608150
ebi	rs267608150
HLI	rs267608150
Exac	rs267608150
Gnomad	rs267608150
Varsome	rs267608150
LitVar	rs267608150
Map	rs267608150
PheGenI	rs267608150
Biobank	rs267608150
1000 genomes	rs267608150
hgdp	rs267608150
ensembl	rs267608150
geneview	rs267608150
scholar	rs267608150
google	rs267608150
pharmgkb	rs267608150
gwascentral	rs267608150
openSNP	rs267608150
23andMe	rs267608150
SNPshot	rs267608150
SNPdbe	rs267608150
MSV3d	rs267608150
GWAS Ctlg	rs267608150

Max Magnitude

6

aka c.736_741delCCCCCTinsTGTGTGTGAAG, p.Pro246Cysfs or p.Pro246Cysfs*3

Definitely pathogenic for Lynch syndrome and a founder mutation in Iceland, according to [PMID 28466842]

ClinVar
Risk	rs267608150(TGTGTGTGAAG;TGTGTGTGAAG)
Alt	rs267608150(TGTGTGTGAAG;TGTGTGTGAAG)
Reference	Rs267608150(CCCCCT;CCCCCT)
Significance	Pathogenic
Disease	Lynch syndrome Neoplastic Syndromes
Variation	info
Gene	PMS2
CLNDBN	Lynch syndrome Neoplastic Syndromes, Hereditary
Reversed	1
HGVS	NC_000007.14:g.5997388_5997393delAGGGGGinsCTTCACACACA
CLNSRC	ClinVar GeneDx InSiGHT
CLNACC	RCV000076885.1, RCV000115703.1,